同型半胱氨酸相关酶基因多态性与高血压伴周围动脉闭塞性疾病的关系

目的探讨亚甲基四氢叶酸还原酶(MTHFR)基因C677T、胱硫醚B合成酶(CBS)基因844ins68和甲硫氨基合成酶(MS)基因A2756G3种同型半胱氨酸(Hcy)代谢相关酶基因多态性与北京社区汉族老年人群中原发性高血压(EH)、EH伴周围动脉闭塞性疾病(PAOD)易感性的关系。方法PCR扩增老年EH(EH组)、老年EH伴PAOD(EH—PAOD组)患者和老年健康对照组的MTHFR C677T、CBS 844ins68、MS A2756G基因突变点，直接或经限制性内切酶消化后行凝胶电泳，确定基因型并统计基因突变频率。结果EH组100例MTHFR基因3种基因型频率为：C／C29．0％，C／T45．0％，T／T26．0％；EH—PAOD组59例为：C／C15．9％，C／T35．5％，T／T48．6％；对照组100例为：C／C31．0％，C／T50．0％，T／T19．0％。3组MTHFR基因的C677T单核苷酸突变中T突变位点的频率分别为48．5％、64．4％、44．0％。EH—PAOD组与对照组和EH组比较，MTHFR T／T基因型频率和T等位基因频率差异均有统计学意义。而CBS 844ins68、MS A2756G各种基因型频率和等位基因频率在EH组、EH—PAOD组和对照组之间差异无统计学意义。结论MTHFR基因C677T单核苷酸突变可能是北京社区汉族老年人PAOD的遗传性危险因素之一，可能与EH无关。且CBS基因844ins68、MS基因A2756G的突变可能都不足以成为EH和PAOD的遗传危险因子。

Study on homocysteine metabolism-related enzymes gene polymorphisms in elderly essential hypertension patients with peripheral arterial occlusive disease

Objective To explore the relationship between gene polymorphisms of homocysteine metabolism-related enzymes [methylenetetrahydrofolate reductase (MTHFR), cystathionine beta-synthase (CBS) and methione synthase (MS)] and the susceptibility to peripheral arterial occlusive disease(PAOD) in elderly essential hypertension(EH) patients in community of Beijing Methods One hundred patients with EH (EH group), 59 patients with PAOD in essential hypertension (EH PAOD group) and 100 healthy controls in elderly people were screened to assess the gene polymorphisms of MTHFR C677T, CBS 844ins68 and MS A2756G by PCR RFLP assay Results The frequencies of three genotypes in MTHFR C677T were C/C (normal )of 29 0%,C/T of 45 0%,T/T (mutant )of 26 0% in EH group and 15 9%,35 5%,48 6% in EH POAD group and 31 0%, 50 0%, 19 0% in controls respectively The frequencies of allele T were 48 5%, 64 4%, 44 0% in the three groups respectively The frequencies of homozygous T/T and allele T in EH-POAD group were significantly higher than those in controls and EH group There were no obvious differences in the frequencies of CBS and MS gene mutations among the three groups Conclusions C677T mutation in MTHFR gene is associated with the susceptivity to PAOD in patients with EH